Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01478:Cdh16'

88534

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cdh16

Ensembl Gene

ENSMUSG00000031881

Gene Name

cadherin 16

Synonyms

KSP-cadherin

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

IGL01478

Quality Score

Status

Chromosome

Chromosomal Location

105328547-105351028 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 105341120 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148701 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000163783] [ENSMUST00000211849] [ENSMUST00000211903] [ENSMUST00000212045] [ENSMUST00000212324] [ENSMUST00000213033] [ENSMUST00000212420] [ENSMUST00000212447] [ENSMUST00000212882]

AlphaFold

O88338

Predicted Effect

probably benign
Transcript: ENSMUST00000163783

SMART Domains

Protein: ENSMUSP00000129663
Gene: ENSMUSG00000031881

Domain	Start	End	E-Value	Type
CA	47	126	2.42e-9	SMART
CA	150	243	3.93e-9	SMART
CA	260	336	5.52e-13	SMART
CA	360	449	1.33e-15	SMART
CA	474	563	3.35e-1	SMART
CA	585	663	7.88e-1	SMART
transmembrane domain	788	810	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000211849

Predicted Effect

probably benign
Transcript: ENSMUST00000211889

Predicted Effect

probably benign
Transcript: ENSMUST00000211903

Predicted Effect

unknown
Transcript: ENSMUST00000212045
AA Change: H121Q

Predicted Effect

probably benign
Transcript: ENSMUST00000212318

Predicted Effect

probably benign
Transcript: ENSMUST00000212324

Predicted Effect

probably benign
Transcript: ENSMUST00000213033

Predicted Effect

probably benign
Transcript: ENSMUST00000212420

Predicted Effect

probably benign
Transcript: ENSMUST00000212447

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212689

Predicted Effect

probably benign
Transcript: ENSMUST00000212882

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the cadherin superfamily, genes encoding calcium-dependent, membrane-associated glycoproteins. Mapped to a previously identified cluster of cadherin genes on chromosome 16q22.1, the gene localizes with superfamily members CDH1, CDH3, CDH5, CDH8 and CDH11. The protein consists of an extracellular domain containing 6 cadherin domains, a transmembrane region and a truncated cytoplasmic domain but lacks the prosequence and tripeptide HAV adhesion recognition sequence typical of most classical cadherins. Expression is exclusively in kidney, where the protein functions as the principal mediator of homotypic cellular recognition, playing a role in the morphogenic direction of tissue development. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2011]

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	G	6: 91,911,590 (GRCm39)	T613A	probably benign	Het
Epn2	A	G	11: 61,413,912 (GRCm39)	S419P	probably benign	Het
Eral1	A	T	11: 77,966,558 (GRCm39)	V234D	probably damaging	Het
Fhad1	T	C	4: 141,678,949 (GRCm39)	K576E	possibly damaging	Het
Frmd4b	T	A	6: 97,305,254 (GRCm39)	D170V	probably damaging	Het
Gm4353	A	G	7: 115,682,975 (GRCm39)	V202A	possibly damaging	Het
Ighmbp2	A	G	19: 3,324,531 (GRCm39)	I245T	probably benign	Het
Igsf23	G	A	7: 19,672,161 (GRCm39)		probably benign	Het
Krt1	A	G	15: 101,754,721 (GRCm39)		probably benign	Het
Mapk8	A	G	14: 33,105,857 (GRCm39)	V371A	probably benign	Het
Mtrf1	T	G	14: 79,640,360 (GRCm39)		probably benign	Het
Myzap	A	G	9: 71,422,349 (GRCm39)		probably null	Het
Nsrp1	C	T	11: 76,941,478 (GRCm39)	V73I	probably benign	Het
Or1j15	T	A	2: 36,458,754 (GRCm39)	L48H	probably damaging	Het
Or52e18	A	G	7: 104,609,555 (GRCm39)	I128T	probably damaging	Het
Or8k39	A	T	2: 86,563,673 (GRCm39)	Y94*	probably null	Het
Pex6	C	T	17: 47,036,230 (GRCm39)	R976C	probably benign	Het
Ranbp9	G	A	13: 43,567,560 (GRCm39)	T546I	probably benign	Het
Rfx5	T	C	3: 94,865,751 (GRCm39)	V350A	possibly damaging	Het
Rnf19b	A	G	4: 128,952,623 (GRCm39)	E187G	probably damaging	Het
Sbf1	A	G	15: 89,183,946 (GRCm39)	V1217A	probably damaging	Het
Sfmbt1	T	A	14: 30,533,478 (GRCm39)	D618E	probably damaging	Het
Sipa1l1	A	G	12: 82,493,672 (GRCm39)	E1697G	probably benign	Het
Syk	A	G	13: 52,778,784 (GRCm39)	Y290C	probably benign	Het
Trim69	T	C	2: 122,008,924 (GRCm39)	L328P	probably damaging	Het
Unc5c	T	A	3: 141,534,212 (GRCm39)	I911N	probably damaging	Het
Wdr5	T	C	2: 27,423,844 (GRCm39)	V294A	probably damaging	Het

Other mutations in Cdh16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Cdh16	APN	8	105,350,045 (GRCm39)	missense	probably benign	0.00
IGL01406:Cdh16	APN	8	105,345,044 (GRCm39)	missense	possibly damaging	0.93
IGL01477:Cdh16	APN	8	105,345,140 (GRCm39)	missense	probably damaging	0.97
IGL01783:Cdh16	APN	8	105,344,488 (GRCm39)	missense	probably damaging	1.00
IGL01951:Cdh16	APN	8	105,344,323 (GRCm39)	missense	probably damaging	0.99
IGL02390:Cdh16	APN	8	105,348,606 (GRCm39)	missense	probably damaging	1.00
IGL02646:Cdh16	APN	8	105,348,737 (GRCm39)	critical splice acceptor site	probably null
IGL02938:Cdh16	APN	8	105,343,561 (GRCm39)	intron	probably benign
IGL02961:Cdh16	APN	8	105,341,837 (GRCm39)	missense	probably damaging	1.00
IGL03378:Cdh16	APN	8	105,345,917 (GRCm39)	missense	probably benign	0.09
PIT1430001:Cdh16	UTSW	8	105,344,271 (GRCm39)	missense	probably benign	0.05
R0016:Cdh16	UTSW	8	105,344,264 (GRCm39)	missense	probably benign	0.22
R1233:Cdh16	UTSW	8	105,345,114 (GRCm39)	missense	possibly damaging	0.89
R1470:Cdh16	UTSW	8	105,345,003 (GRCm39)	missense	probably benign	0.04
R1470:Cdh16	UTSW	8	105,345,003 (GRCm39)	missense	probably benign	0.04
R1490:Cdh16	UTSW	8	105,348,702 (GRCm39)	missense	probably damaging	1.00
R1752:Cdh16	UTSW	8	105,346,505 (GRCm39)	critical splice donor site	probably null
R1892:Cdh16	UTSW	8	105,344,631 (GRCm39)	missense	possibly damaging	0.69
R1913:Cdh16	UTSW	8	105,343,100 (GRCm39)	missense	probably benign	0.11
R1933:Cdh16	UTSW	8	105,344,595 (GRCm39)	missense	possibly damaging	0.71
R1934:Cdh16	UTSW	8	105,344,595 (GRCm39)	missense	possibly damaging	0.71
R2029:Cdh16	UTSW	8	105,344,434 (GRCm39)	missense	probably damaging	1.00
R2057:Cdh16	UTSW	8	105,348,597 (GRCm39)	nonsense	probably null
R2337:Cdh16	UTSW	8	105,348,902 (GRCm39)	missense	probably benign	0.09
R3848:Cdh16	UTSW	8	105,344,473 (GRCm39)	missense	possibly damaging	0.64
R3850:Cdh16	UTSW	8	105,344,473 (GRCm39)	missense	possibly damaging	0.64
R3892:Cdh16	UTSW	8	105,342,959 (GRCm39)	missense	probably damaging	1.00
R4167:Cdh16	UTSW	8	105,344,362 (GRCm39)	missense	probably benign	0.02
R4577:Cdh16	UTSW	8	105,345,191 (GRCm39)	missense	probably damaging	1.00
R4657:Cdh16	UTSW	8	105,341,858 (GRCm39)	splice site	probably null
R4726:Cdh16	UTSW	8	105,342,664 (GRCm39)	missense	probably damaging	0.97
R4843:Cdh16	UTSW	8	105,348,172 (GRCm39)	missense	probably damaging	1.00
R4878:Cdh16	UTSW	8	105,344,696 (GRCm39)	missense	probably damaging	1.00
R5013:Cdh16	UTSW	8	105,343,660 (GRCm39)	missense	probably damaging	1.00
R5642:Cdh16	UTSW	8	105,344,677 (GRCm39)	missense	probably damaging	0.98
R6134:Cdh16	UTSW	8	105,342,697 (GRCm39)	missense	probably benign	0.15
R6311:Cdh16	UTSW	8	105,341,065 (GRCm39)	missense	probably benign	0.40
R6352:Cdh16	UTSW	8	105,343,624 (GRCm39)	missense	probably damaging	0.99
R6382:Cdh16	UTSW	8	105,348,175 (GRCm39)	missense	possibly damaging	0.78
R6713:Cdh16	UTSW	8	105,346,617 (GRCm39)	nonsense	probably null
R6732:Cdh16	UTSW	8	105,345,165 (GRCm39)	missense	probably benign	0.28
R6755:Cdh16	UTSW	8	105,345,880 (GRCm39)	missense	probably damaging	1.00
R6913:Cdh16	UTSW	8	105,348,896 (GRCm39)	missense	probably benign	0.00
R7037:Cdh16	UTSW	8	105,344,267 (GRCm39)	nonsense	probably null
R7202:Cdh16	UTSW	8	105,340,780 (GRCm39)	missense	unknown
R7413:Cdh16	UTSW	8	105,346,572 (GRCm39)	missense	probably benign	0.00
R7460:Cdh16	UTSW	8	105,348,923 (GRCm39)	missense	possibly damaging	0.88
R8017:Cdh16	UTSW	8	105,342,899 (GRCm39)	missense	probably damaging	1.00
R8187:Cdh16	UTSW	8	105,344,870 (GRCm39)	missense	probably damaging	1.00
R8261:Cdh16	UTSW	8	105,341,811 (GRCm39)	nonsense	probably null
R8278:Cdh16	UTSW	8	105,345,107 (GRCm39)	missense	probably benign	0.39
R8421:Cdh16	UTSW	8	105,348,602 (GRCm39)	missense	probably benign	0.00
R8491:Cdh16	UTSW	8	105,343,681 (GRCm39)	missense	probably damaging	1.00
R8725:Cdh16	UTSW	8	105,344,874 (GRCm39)	missense	probably benign	0.00
R8810:Cdh16	UTSW	8	105,341,136 (GRCm39)	missense	probably damaging	0.97
R9246:Cdh16	UTSW	8	105,344,602 (GRCm39)	missense	probably benign
R9267:Cdh16	UTSW	8	105,341,834 (GRCm39)	missense	probably damaging	1.00
R9661:Cdh16	UTSW	8	105,345,612 (GRCm39)	missense	probably benign	0.41
R9689:Cdh16	UTSW	8	105,341,108 (GRCm39)	missense	probably benign
RF005:Cdh16	UTSW	8	105,343,684 (GRCm39)	missense	probably damaging	1.00
RF024:Cdh16	UTSW	8	105,343,684 (GRCm39)	missense	probably damaging	1.00
X0067:Cdh16	UTSW	8	105,346,649 (GRCm39)	missense	probably damaging	1.00
Z1176:Cdh16	UTSW	8	105,341,817 (GRCm39)	missense	probably damaging	1.00
Z1177:Cdh16	UTSW	8	105,350,072 (GRCm39)	critical splice acceptor site	probably null

Posted On

2013-11-18